1k Genomes

Tree Position

Unique Mutations

The mutations unique to this man are summarized in the table below. Those with a '+' or '*' confidence level are considered by FamilyTreeDNA or FullGenomesCorp to be high quality SNPs/INDELs. For completeness, all other mutations of lesser confidence are included as well. These additional mutations may be useful for distinguishing between very closely related men.

Occasionally, some of the mutations listed here will be thought to be shared with other men in which case they might appear in upstream blocks on the tree. When this happens, the 'Blocks' field will indicate what block they appear in. Such a situation might arise with BigY men if the BED data suggests another man may be positive for a SNP, even though it doesn't appear in his VCF data. It might also happen if Chromo2 testing or Sanger sequencing of other men not on the tree show the SNP to be shared.

POS-REF-ALT (hg19)

POS-REF-ALT (hg38)

Blocks

Names

Region

McDonald BED

combBED

STR

1kGHG00141

13660258-G-A

11504582-G-A

5×TGGAA

+

10031595-G-C

10193986-G-C

Y

+

13828048-A-G

11707342-A-G

+

13631823-C-G

11476147-C-G

+

13511277-A-G

11355601-A-G

+

13442438-C-G

11286762-C-G

+

13441032-C-T

11285356-C-T

+

13385505-A-G

11229829-A-G

+

10078464-A-T

10240855-A-T

+

8911656-C-T

9043615-C-T

Y88371

+

14926462-C-CAAA

12814527-C-CAAA

26×A

+

8690178-G-A

8822137-G-A

Y

Y

+

7282150-TC-T

7414109-TC-T

+

7135408-TG-T

7267367-TG-T

+

6808168-T-G

6940127-T-G

Y

Y

+

6808165-T-G

6940124-T-G

Y

Y

+

6808163-C-G

6940122-C-G

Y

Y

+

6808159-C-G

6940118-C-G

Y

Y

+

13885856-TC-T

11765150-TC-T

+

15216640-T-C

13104726-T-C

CTS3832

Y

+

5227085-AGC-A

5359044-AGC-A

+

21729144-C-G

19567258-C-G

S23478 SK2357

Y

Y

+

23883844-T-C

21721958-T-C

Y

+

23838496-T-G

21676610-T-G

+

23241941-A-C

21080055-A-C

Y

+

22507738-G-T

20345852-G-T

DYZ19

+

22485259-T-A

20323373-T-A

DYZ19

+

22437518-C-T

20275632-C-T

DYZ19

+

21922113-T-G

19760227-T-G

Y

Y

+

21623799-A-C

19461913-A-C

Y

Y

+

15479963-T-TTTG

13368083-T-TTTG

+

21515862-C-CAAA

19353976-C-CAAA

28×A

+

21477809-GAAAA-G

19315923-GAAAA-G

+

19438611-A-G

17326731-A-G

Y

Y

+

19314734-A-T

17202854-A-T

Y

Y

+

19202764-AC-A

17090884-AC-A

+

19126473-G-A

17014593-G-A

Y

Y

+

17203324-C-T

15091444-C-T

Y

Y

+

16729172-G-GTTTT

14617292-G-GTTTT

22×T

+

5426381-TC-T

5558340-TC-T

+

4903619-C-T

5035578-C-T

+

13143959-N-C

10633445-N-C

+

8789530-A-G

8921489-A-G

Z37072

Y

Y

+

14920417-C-T

12808482-C-T

Y

Y

+

14832009-A-G

12720076-A-G

Y

Y

+

14671961-G-A

12560027-G-A

A7314

Z1787 M3866 CTS3119

Y

+

14250048-T-A

12129342-T-A

Y

Y

+

13995665-C-A

11874959-C-A

Y

+

13969639-G-C

11848933-G-C

Y

+

13905578-T-C

11784872-T-C

Y

+

8255925-G-A

8387884-G-A

Y

Y

+

16499494-G-A

14387614-G-A

CTS5835

Y

+

7695150-C-T

7827109-C-T

Y

Y

+

7539961-C-T

7671920-C-T

Y

Y

+

7405690-T-G

7537649-T-G

Y

Y

+

2853302-C-G

2985261-C-G

Y

Y

+

2725415-G-A

2857374-G-A

Z9890

Y

Y

+

23633377-T-C

21471491-T-C

Y

Y

+

9147218-A-G

9309609-A-G

FGC6800 Z12353

Y

+

14979109-C-G

12867185-C-G

Y

Y

+

16822723-T-C

14710843-T-C

Y

Y

+

4880731-TG-T

5012690-TG-T

+

22201709-C-A

20039823-C-A

Y

Y

+

3999589-C-T

4131548-C-T

+

3882066-C-T

4014025-C-T

FT694

+

3847074-T-C

3979033-T-C

+

3573203-G-C

3705162-G-C

+

7364367-G-T

7496326-G-T

PH634

Y

Y

27×T

+

28521043-T-C

26374896-T-C

Y

+

22929102-G-A

20767216-G-A

Y

Y

+

21381810-G-A

19219924-G-A

Y

+

17027959-G-A

14916079-G-A

Y

Y

+

21341641-A-G

19179755-A-G

Y

Y

+

19456948-C-T

17345068-C-T

Y

Y

+

19321707-G-A

17209827-G-A

Y

Y

+

19070975-C-T

16959095-C-T

Y

Y

+

18875272-G-A

16763392-G-A

Y

+

18135914-G-C

16024034-G-C

Y

+

17966702-G-A

15854822-G-A

Y

+

17871246-A-T

15759366-A-T

Y

Y

+

24479021-T-A

22332874-T-A

Y

+

In the table above, the meaning of the confidence field depends on whether the data comes from an FTDNA kit or an FGC kit. For FTDNA kits, + implies a "PASS" result with just one possible variant, * indicates a "PASS" but with multiple variants, ** indicates "REJECTED" with just a single variant, and *** indicates "REJECTED" with multiple possible variants. 'A*' are heterozygous variants not called by FTDNA, but still pulled from the VCF file. For FGC kits, + indicates over 99% likely genuine (95% for INDELs); * over 95% likely genuine (90% for INDELs); ** about 40% likely genuine; *** about 10% likely genuine. Manual entries read directly from a BAM file will be either + indicating positive, or * indicating that the data show a mixture of possible variants.

For the FTDNA kits, the BED data is encoded in the background color of the cells. Those cells with a white background have coverage, those with a grey background indicate no coverage in the BED file, and those with a pink background indicate the mutation is on the edge of a coverage region. These pink regions often indicate that the individual may be positive for a SNP even if there is no corresponding entry in the vcf file.